Variant report

Variant	rs4395293
Chromosome Location	chr2:100386334-100386335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57107769	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6757959	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72956176	1.00[AMR][1000 genomes]
rs7561590	0.80[AFR][1000 genomes]
rs7599020	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100357600-100389400	Weak transcription	Thymus	Thymus
2	chr2:100360000-100394600	Weak transcription	Dnd41	blood
3	chr2:100367800-100386400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:100377800-100386800	Strong transcription	Primary B cells from cord blood	blood
5	chr2:100379800-100386400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:100380000-100393200	Weak transcription	Primary T cells from cord blood	blood
7	chr2:100382400-100390600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:100383800-100388600	Weak transcription	Ovary	ovary
9	chr2:100384200-100386400	Weak transcription	Placenta	Placenta
10	chr2:100384200-100404400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:100385400-100387200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
12	chr2:100385800-100386400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:100385800-100386800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:100386000-100387400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:100386200-100390000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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